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Enzyme Replacement Therapy for Pompe Disease

  • Nerve and Muscle (M Hirano and LH Weimer, Section Editors)
  • Published:
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Abstract

Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Recently, both infantile and adult GSDII patients have been treated with enzyme replacement therapy (ERT), and a number of studies including large cohorts of GSDII patients have recently demonstrated that ERT is effective in modifying the natural course of the disease. The opportunity of this new treatment gave new hope to patients, but also an important impulse to the research on every feature of the disease, leading to a deeper knowledge on the response to treatment, on clinical manifestations, and on pathophysiologic aspects such as the role of autophagy and immune status.

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References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. Angelini C, Engel AG. Subcellular distribution of acid and neutral alpha-glucosidases in normal, acid maltase deficient, and myophosphorylase deficient human skeletal muscle. Arch Biochem Biophys. 1973;156:350–5.

    Article  PubMed  CAS  Google Scholar 

  2. Hirschhorn R, Reuser, AJ. Glycogen storage disease type II: acid alphaglucosidase (acid maltase) deficiency. In: CR Scriver BA, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 3389–420

    Google Scholar 

  3. van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372:1342–53.

    Article  PubMed  Google Scholar 

  4. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71:S4–S11.

    Article  PubMed  CAS  Google Scholar 

  5. Laforet P, Nicolino M, Eymard PB, et al. Juvenile and adult onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 2000;55:1122–8.

    PubMed  CAS  Google Scholar 

  6. Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148:671–6.

    Article  PubMed  Google Scholar 

  7. Hagemans MLC, Winkel LP, Hop WC, et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64:2139–214.

    Article  PubMed  CAS  Google Scholar 

  8. Mellies U, Stehling F, Dohna-Schwake C, et al. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64:1465–7.

    Article  PubMed  CAS  Google Scholar 

  9. Hagemans ML, Hop WJ, Van Doorn PA, et al. Course of disability and respiratory function in untreated lae onset Pompe disease. Neurology. 2006;66:581–3.

    Article  PubMed  CAS  Google Scholar 

  10. Angelini C, Semplicini C, Ravaglia S, and the Italian GSDII Group. Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy. Acta Myologica. 2011; in Press.

  11. Hagemans MLC, Janssens ACJW, Winkel LPF, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004;63:1688–92.

    PubMed  CAS  Google Scholar 

  12. Gungor D, de Vries JM, Hop WCJ, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011;6:34.

    Article  PubMed  Google Scholar 

  13. Kanters TA, Hagemans ML, van der Beek NA, et al. Burden of illness of Pompe disease in patients only receiving supportive care. Inherit Metab Dis. 2011 Apr 16. [Epub ahead of print].

  14. Nascimbeni AC, Fanin M, Tasca E, Angelini C. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology. 2008;70:617–26.

    Article  PubMed  CAS  Google Scholar 

  15. Hug G, Schubert WK. Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J Cell Biol. 1967;35:C1–6.

    Article  PubMed  CAS  Google Scholar 

  16. Kornfeld S. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu Rev Biochem. 1992;61:307–30.

    Article  PubMed  CAS  Google Scholar 

  17. Neufeld EF. Enzyme replacement therapy – a brief history. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 10.

    Google Scholar 

  18. Rossi M, Parenti G, Della Casa R, et al. Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. J Child Neurol. 2007;22:565–73.

    Article  PubMed  Google Scholar 

  19. Van den Hout H, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet. 2000;356:397–8.

    Article  PubMed  Google Scholar 

  20. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109.

    Article  PubMed  CAS  Google Scholar 

  21. Kishnani PS, Nicolino M, Voit T, et al. Results from a phase II trial of Chinese hamster ovary cell-derived recombinant human acid a-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89–97.

    Article  PubMed  CAS  Google Scholar 

  22. van der Ploeg AT. Where do we stand in enzyme replacement therapy in Pompe’s disease? Neuromuscul Disord. 2010;20(12):773–4.

    Article  PubMed  Google Scholar 

  23. • Bembi B, Cerini E, Danesino C, et al. Management and treatment of glycogenosis type II. Neurology. 2008;71:S12–36. A task force of physicians reviewed the literature to provide guidelines for clinical and instrumental follow-up of GSDII patients, to monitor the natural course of the disease and to prevent and/or treat early any complication of this multisystemic disorder.

    Article  PubMed  CAS  Google Scholar 

  24. •• van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362(15):1396–406. This is the only double-blind randomized placebo-controlled study on efficacy of ERT in late onset patients. It demonstrated the efficacy of treatment in ameliorating motor and respiratory function.

    Article  PubMed  Google Scholar 

  25. Strothotte S, Strigi-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. 2010;257:91–7.

    Article  PubMed  CAS  Google Scholar 

  26. Bembi B, Pisa FE, Confalonieri M, et al. Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis. 2010;33:727–35.

    Article  PubMed  CAS  Google Scholar 

  27. van Capelle CI, Winkel LP, Hagemans ML, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008;18:447–52.

    Article  PubMed  Google Scholar 

  28. Kobayashi H, Shimada Y, Ikegami M, et al. Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab. 2010;100:14–9.

    Article  PubMed  CAS  Google Scholar 

  29. Ravaglia S, Carlucci A, Danesino C. Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: the two sides of low BMI. Mol Genet Metab. 2010;100:388.

    Article  PubMed  CAS  Google Scholar 

  30. Orlikowski D, Pellegrini N, Prigent H, et al. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord. 2011;21:477–82.

    Article  PubMed  Google Scholar 

  31. Drost MR, Schaart G, van Dijk P, et al. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve. 2008;37(2):251–5.

    Article  PubMed  Google Scholar 

  32. Drost MR, Hesselink RP, Oomens CW, van der Vusse GJ. Effects of non contractile inclusions on mechanical performance of skeletal muscle. J Biomech. 2005;38:1035–43.

    Article  PubMed  Google Scholar 

  33. • Raben N, Takikita S, Pittis MG, et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand.. Autophagy. 2007;3:546–52. This paper reviews the importance of autophagy in pathophysiology of GSDII and reveals new mechanisms involved in the disease.

    PubMed  CAS  Google Scholar 

  34. Thurberg BL, Lynch Maloney C, Vaccaro C, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006;86:1208–20.

    Article  PubMed  CAS  Google Scholar 

  35. Raben N, Ralston E, Chien YH, et al. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab. 2010;101:324–31.

    Article  PubMed  CAS  Google Scholar 

  36. Raben N, Schreiner C, Baum R, et al. Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder–murine Pompe disease. Autophagy. 2010;6:1078–89.

    Article  PubMed  CAS  Google Scholar 

  37. Fukuda T, Roberts A, Ahearn M, et al. Autophagy and lysosomes in Pompe disease. Autophagy. 2006;2:318–20.

    PubMed  CAS  Google Scholar 

  38. Zampieri S, Buratti E, Dominissini S, et al. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes. Eur J Hum Genet. 2011;19:422–31.

    Article  PubMed  CAS  Google Scholar 

  39. Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA. Characterization of the human lysosomal alpha-glucosidase gene. Biochem J. 1990;272:493–7.

    PubMed  CAS  Google Scholar 

  40. Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99:26–33.

    Article  PubMed  CAS  Google Scholar 

  41. de Vries JM, van der Beek NA, Kroos MA, et al. High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab. 2010;101:338–45.

    Article  PubMed  Google Scholar 

  42. Banugaria SG, Prater SN, Ng YK, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease. Genet Med. 2011;13:729–36.

    Article  PubMed  CAS  Google Scholar 

  43. Joseph A, Munroe K, Housman M, et al. Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model. Clin Exp Immunol. 2008;152:138–46.

    Article  PubMed  CAS  Google Scholar 

  44. Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS. Elimination of antibodies to recombinant enzyme in Pompe’s disease. N Engl J Med. 2009;360:194–5.

    Article  PubMed  CAS  Google Scholar 

  45. Koeberl DD, Kishnani PS. Immunomodulatory gene therapy in lysosomal storage disorders. Curr Gene Ther. 2009;9(6):503–10.

    Article  PubMed  CAS  Google Scholar 

  46. Little JP, Phillips SM. Resistance exercise and nutrition to counteract muscle wasting. Appl Physiol Nutr Metab. 2009;34(5):817–28.

    Article  PubMed  Google Scholar 

  47. Slonim AE, Bulone L, Goldberg T, et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007;35:70–7.

    Article  PubMed  CAS  Google Scholar 

  48. Terzis G, Dimopoulos F, Papadimas GK, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011 May 19. [Epub ahead of print].

  49. Levenson D. Late onset Pompe disease revealed by newborn screening. Am J Med Genet A. 2011;155A(5).

  50. • Chien YH, Lee NC, Huang HJ, et al. Later-onset pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011;158:1023–7. This paper discusses the importance of early diagnosis with newborn screening in metabolic myopathies such as GSDII, which may change more significantly the natural course of the disease.

    Article  PubMed  Google Scholar 

  51. Zhu Y, Jiang JL, Gumlaw NK, et al. Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther. 2009;17:954–63.

    Article  PubMed  CAS  Google Scholar 

  52. Flanagan JJ, Rossi B, Tang K, et al. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat. 2009;30:1683–92.

    Article  PubMed  CAS  Google Scholar 

  53. Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 2009;1:268–79.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgment

This paper was supported by Telethon GUP-007001, EuroBioBank, and TREAT-NMD.

Disclosure

Conflicts of interest: C. Angelini: received travel/accommodations expenses covered or reimbursed for IV Steps Forward in Pompe Disease; C. Semplicini: received an honorarium for a speech at IV Steps Forward in Pompe Disease.

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Authors and Affiliations

  1. Department of Neurosciences, Neuromuscular Laboratory, Campus Pietro d’Abano, University of Padova, Via Orus 2, 35129, Padova, Italy

    Corrado Angelini & Claudio Semplicini

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  1. Corrado Angelini
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  2. Claudio Semplicini
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Correspondence to Corrado Angelini.

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Angelini, C., Semplicini, C. Enzyme Replacement Therapy for Pompe Disease. Curr Neurol Neurosci Rep 12, 70–75 (2012). https://doi.org/10.1007/s11910-011-0236-5

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